Extranodal involvement has been reported in about one third of the patients and may include the skin, lungs, bone, orbits, eyelids, kidneys, upper respiratory tract, peritoneum, salivary glands, testes and the central nervous system. This group of disorders includes h syndrome, pigmented hypertrichosis with insulindependent diabetes mellitus phid, faisalabad histiocytosis, and familial rosai dorfman disease also known as sinus. Rosai dorfman disease, also called sinus histiocytosis with massive lymphadenopathy, is a nonlangerhans histiocytic disease. Rosai dorfman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, is a benign proliferation of histiocytes. Rosai dorfman disease is a rare disorder which seems to involve not only the lymph nodes but most other organs of the body. Rosaidorfman disease nord national organization for. Intracranial involvement is relatively rare and isolated intracranial rdd is very scarce. Rosaidorfman disease with paravertebral and epidural. Rosaidorfman disease or sinus histiocytosis with massive lymphadenopathy is a rare disorder that typically manifests as lymphadenopathy and systemic.
Specifically, cardiac involvement in rosai dorfman disease is an extraordinarily infrequent event. Sinus histiocytosis with massive lymphadenopathy rosai dorfman disease rdd is a benign entity first described by rosai and dorfman in 1969 1 and characterized by marked, painless lymph node enlargement. Cutaneous rosai dorfman disease with associated uveitis. Rosai dorfman disease, abbreviated rdd, is a rare lymph node pathology. Rosai dorfman disease rdd is a rare idiopathic disorder affecting predominantly young adults. Rosai dorfman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, is a rare benign histioproliferative disorder of unknown etiology. The disease usually manifests during the first two decades of life with extraordinary massive painless cervical lymphadenopathy as its most common clinical feature. Treatment is necessary only for cosmetic purposes or in case of becoming a life threatening condition. It is an uncommon benign condition, often confused with lymphoma. The diagnosis of rosaidorfman rd is made following a biopsy of the affected tissue. Rosaidorfman disease symptoms histiocytosis association. Rosaidorfman disease is a rare disorder characterized by overproduction proliferation and accumulation of a specific type of white blood cell histiocyte in the lymph nodes of the body lymphadenopathy, most often those of the neck cervical lymphadenopathy.
Rosaidorfman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, is a rare benign histioproliferative disorder of unknown etiology. First described by rosai and dorfman in 1969, it is also known as sinus histiocytosis with massive lymphadenopathy. Chanarindorfman syndrome cds or neutral lipid storage disease with ichthyosis nlsdi is an ultrarare, recessively inherited form of ichthyosis. Rosai dorfman disease rdd is a benign nonlangerhans cell histiocytic disorder often involving the cervical lymph nodes. Rosai dorfman syndrome a rare clinical entity europe.
Isolated intracranial rosaidorfman disease mimicking a. Consensus recommendations for the diagnosis and clinical. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Pathology outlines sinus histiocytosis with massive. Rosai dorfman disease is a rare benign disease that was first described by rosai and dorfman as sinus histiocytosis with massive lymphadenopathy in the 1960s. Rosai dorfman disease is a rare, benign histiocytic proliferative disorder that usually affects the lymph nodes. Rosaidorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or sometimes as destombesrosaidorfman disease, is a rare disorder of unknown cause that is characterized by abundant histiocytes in the lymph nodes or other locations throughout the body. A 25yearold woman presented with multiple erythematous and yellowish papules on the forehead, cheeks, chin and thigh.
Patients usually present with massive, painless, bilateral cervical lymphadenopathy and clinical course is variable. Cutaneous rosaidorfman disease md anderson cancer center. The diagnosis of rosai dorfman rd is made following a biopsy of the affected tissue. Rosai dorfman disease rdd, which is also referred to as sinus histiocytosis with massive lymphadenopathy, is a rare nonlangerhans cell reactive histiocytic disorder that was initially described in 1969. Rosai dorfman disease, originally known as sinus histiocytosis with massive lymphadenopathy, is a rare disorder of unknown cause that is characterized by abundant histiocytes in the lymph nodes or other locations throughout the body. Via a data mining engine, we evaluated cases of extranodal rdd in 10 patients treated at our institution from 2000 to 2014. Cns involvement in the setting of rdd is uncom mon and has been reported in 210 cases in the english literature. Rosaidorfman syndrome is characterized by sinus histiocytosis with massive lymphadenopathy. It is a rare, benign, selflimiting disease of phagocytic histiocytes affecting a young age group presenting with massive painless cervical lymphadenopathy. Rosai dorfman syndrome is characterized by sinus histiocytosis with massive lymphadenopathy. It was first described in 1969 by rosai and dorfman.
It is most commonly seen in male teenagers and young adults. This is usually on both sides and is painless but often get very. This case is an unusual and rare clinical presentation of cervical lymphadenopathy and nasal mass diagnosed as rdd with cytohistopathological correlation. Rosaidorfman disease rdd is a rare histiocytic disorder initially described as a. Sinus histiocytosis with massive lymphadenopathy also known as rosai dorfman syndrome is a unique disease of unknown etiology with a childhood predilection. Rosai dorfman disease rdd is a rare proliferative histiocytic disorder, most commonly presenting with cervical lymphadenopathy. Rosai dorfman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, is a rare nonmalignant lymphohistiocytic proliferative disorder. No uniform approach has been delineated for rdd, and treatment is best tailored to. Patients usually present with massive, painless, bilateral cervical. Rosai dorfman disease is a rare disorder characterized by overproduction proliferation and accumulation of a specific type of white blood cell histiocyte in the lymph nodes of the body lymphadenopathy, most often those of the neck cervical lymphadenopathy.
Isolated extranodal involvement is relatively uncommon. H syndrome, also known as histiocytosislymphadenopathy plus syndrome or phid, is a rare genetic condition caused by mutations in the slc29a3 gene which encode the human equilibrative nucleoside transporter hent3 protein it is also known as faisalabad histocytosis, familial rosai dorfman disease, sinus histocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin. It is a rare, benign, selflimiting disease of phagocytic histiocytes affecting a young age group presenting with massive painless cervical. Cutaneous rosaidorfman disease a case report scielo. Deposition of histiocytes in other organs has been observed, which is why the diagnosis rests on a thorough imaging and laboratory workup, histopathological examination and immunohistochemistry testing. Histiocytosislymphadenopathy plus syndrome also known as slc29a3 spectrum disorder is a group of conditions with overlapping signs and symptoms that affect many parts of the body. Rosai dorfman disease rdd is a rare, benign condition that causes proliferation of histiocytes, a type of white blood cells, within the lymph nodes and other organs of the body. Chanarin dorfman syndrome foundation for ichthyosis. A classical pseudo lymphoma may be enunciated as rosai dorfman disease or sinus histiocytosis with massive lymphadenopathy 1,3. Rosai dorfman disease rdd is a rare idiopathic his to proliferative disorder that usually presents with systemic symptoms and cervical lymphadenopathy. Tumor biology, clinical features, pathology, and treatment. Rosai dorman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, was originally described by destombes in 1965.
If the cells in the tissue have certain specific characteristics, the diagnosis of rd can be made. Pdf sinus histiocytosis with massive lymphadenopathy, also known as rosai dorfman disease, is a rare histiocytic proliferative disorder of. Rosai dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare nodal andor extranodal histiocytic disorder characterized by the accumulation of abnormal. Clinically, it is most frequently characterized by massive painless cervical lymphadenopathy with other systemic manifestations, including fever, night sweats, and weight loss. Rosai dorfman disease rdd is a rare selflimited histiocytic proliferative disorder of unknown etiology. When extranodal, a rare manifestation of the disease is the presence of cutaneous lesions. Surgical excision has shown promising results in patients with cutaneous rdd. Rosaidorfman disease, sinus histiocytosis, lymphadenopathy. A small piece of the tissue is obtained so that it can be viewed under a microscope by a pathologist. Pdf rosaidorfman syndrome is characterized by sinus histiocytosis with massive lymphadenopathy. Rosai dorfman destombes disease rdd is a rare nonlangerhans cell histiocytosis lch first described in 1965 by a french pathologist, pierre paul louis lucien destombes, who reported 4 children and young adults with lymphadenopathy and sinus histiocytosis upon histologic analysis. In the absence of massive lymphadenopathy characteristic of rosai dorfman disease, the diagnosis of purely cutaneous rosai dorfman disease may be complicated by the rarity, nonspecific clinical appearance of skin lesions, and broad histopathological differential diagnosis of this disorder. It is also suggested that rosaidorfman disease and its.
Pdf rosaidorfman disease or sinus histiocytosis with massive lymphadenopathy is a rare disorder that typically manifests as. Rosaidorfman disease, originally known as sinus histiocytosis with massive lymphadenopathy, is a rare disorder of unknown cause that is characterized by abundant histiocytes in the lymph nodes or other locations throughout the body. Clinical reports august 2014 cutaneous rosai dorfman disease with associated uveitis recognition of cutaneous rosai dorfman disease and the possibility of associated uveitis is important so that patients can be referred for appropriate ophthalmologic evaluation. We report a patient with rdd who presented with multiple skin lesions, pulmonary involvement, and ct manifestations mimicking langerhans cell histiocytosis, which improved after initiation of corticosteroid treatment.
We present an exceptionally rare case of cooccurrence of rosaidorfman disease rdd and nodal marginal zone lymphoma nmzl in a 60yearold caucasian female with a 20year course of sjogrens syndrome ss. Extranodal involvement occurs in 43% and most commonly involves the head and neck, skin, and bones. Rosai dorfman disease sinus histiocytosis with massive lymphadenopathy is a rare benign idiopathic proliferative disease of phagocytic histiocytes. It is a benign disease which is characterized by overproduction and accumulation of a specific type of white blood cell in the lymph nodes of the body, most often those of the neck cervical. Rosai dorfman syndrome known as sinus histiocytosis with massive lymphadenopathy shml is an uncommon benign systemic histioproliferative disease which. Rosai dorfman syndrome known as sinus histiocytosis with massive lymphadenopathy shml is an uncommon benign systemic histioproliferative disease which affects lymph nodes, most often those of.
Rosaidorfman disease was first described by rosai and dorfman in 1969. Feb 28, 2014 rosai dorfman disease rdd is a rare, benign disease that presents with massive painless cervical lymphadenopathy. Rosai dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or sometimes as destombes rosai dorfman disease, is a rare disorder of unknown cause that is characterized by abundant histiocytes in the lymph nodes or other locations throughout the body. Extranodal sites are involved in up to 43% of the cases, with 23% of.
Rosaidorfman disease or sinus histiocytosis with massive lymphadenopathy is a rare disorder that typically manifests as lymphadenopathy and systemic symptoms whose etiology remains poorly elucidated. Jul 22, 20 rosai dorfman disease was first described by rosai and dorfman in 1969. However, more than 87% of patients present with enlargement of the lymph nodes in the neck. Rosai dorfman disease rdd is an uncommon benign histiocytic disorder. Rosai dorfman disease rdd with spinal cord involvement is a rare clinical entity. Initially scripted by drs rosai and dorfman in 1969, the rosai dorfman disease is an infrequent, localized or systemic, macrophage related disorder of obscure origin, which may incriminate the lymph nodes and adjunctive organs 2,3. Rosai dorfman disease was first described by rosai and dorfman in 1969. Rosaidorfman disease destombes rosai dorfman syndrome. Rosai dorfman disease is a rare disorder characterized by accumulation of histiocytes and massive lymphadenopathy, particularly in the neck and head. Rosaidorman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, was originally described by destombes in 1965. Other lymph node groups may also be involved and, in some cases, abnormal. Noting that the histiocytes in this disorder display the immunophenotype characteristic of rosai dorfman disease, and that patients with faisalabad histiocytosis familial rosai dorfman disease have features overlapping those of h syndrome, colmenero et al. Rosaidorfmandestombes disease rdd is a rare nonlangerhans cell histiocytosis lch first described in 1965 by a french pathologist, pierre paul louis lucien destombes, who reported 4 children and young adults with lymphadenopathy and sinus histiocytosis upon histologic analysis. Rosaidorfman disease rdd is also known as sinus histiocytosis with massive lymphadenopathy shml.
Simultaneous occurrence of rosaidorfman disease and nodal. Jun 30, 2017 rosaidorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare nodal andor extranodal histiocytic disorder characterized by the accumulation of abnormal. Rosaidorfman disease with bilateral serous retinal. Rosai dorfman syndrome a rare clinical entity springerlink. Rosaidorfman disease presenting with isolated bilateral. Cutaneous rosai dorfman disease typically occurs in older females and presents in various forms, ranging from single papules to multiple nodules and plaques. Rosaidorfman disease merck manuals professional edition. Rosai dorfman disease is an idiopathic benign proliferative disorder of histiocytes. Multifocal rosaidorfman disease with involvement of the. It is a benign disease which is characterized by overproduction and accumulation of a specific type of white blood cell histiocyte in the lymph nodes of the body, most often those of the neck cervical.
Rosaidorfman disease genetic and rare diseases information. We report a case of rdd with paravertebral and intraspinal epidural involvement in a 24yearold male bangladeshi patient who presented with progressive bilateral lower limb weakness for 20 days duration associated with spasticity and muscle spasm. Rosaidorfman syndrome riyaz n, khader a, sarita s indian j. The case history is presented of a woman who was thought to have atypical carcinoma of the lung but in whom a diagnosis of rosai dorfman disease was eventually made following a range of investigations including ct scans, positron emission tomography pet and histological. She had massive generalized, firm, nontender and nonmatted lymphadenopathy and mild hepatomegaly. Rosaidorfman disease is most common among patients symptoms are fever and massive, painless cervical lymphadenopathy. It is also known as sinus histiocytosis with massive lymphadenopathy, 1 abbreviated shml. Rosai dorfman may affect lymph nodes only, it can affect lymph nodes plus other body systems, or it can occur in body systems without lymph node involvement. Rosai dorfman disease rdd is a rare, nonmalignant clinical entity characterized by a group of clinical symptoms and characteristic pathological features. Rosai dorfman disease is most common among patients rosai dorfman disease a. Rosaidorfman disease nord national organization for rare. To describe the radiologic and clinicopathologic features of extranodal rosai dorfman disease rdd in our patient population. The case history is presented of a woman who was thought to have atypical carcinoma of the lung but in whom a diagnosis of rosai dorfman disease was eventually made following a range of investigations including ct scans, positron emission tomography pet and.
Rosai dorfman disease destombes rosai dorfman syndrome. Histiocytosislymphadenopathy plus syndrome genetics. Sep 14, 2007 sinus histiocytosis with massive lymphadenopathy also known as rosai dorfman syndrome is a unique disease of unknown etiology with a childhood predilection. Ocular manifestations of rosaidorfman disease occur in 1011% of cases3. A disturbance that presents with massive painless lymphadenopathy in the neck, often bilateral. Rosai dorfman disease is most common among patients rosai dorfman disease diagnosis and treatment. Approximately 80% of patients present with painless massive cervical lymphadenopathy. Rosaidorfmandestombes disease rdd is a rare nonlangerhans cell. Rosaidorfman disease, otherwise known as sinus histiocytosis with massive lymphadenopathy, is.
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